Fetal akinesia-cerebral and retinal hemorrhage syndrome
Synonyms: LCCS5 · Lethal congenital contracture syndrome type 5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fetal akinesia-cerebral and retinal hemorrhage syndrome | LCCS5 · Lethal congenital contracture syndrome type 5 |
| fr | Syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | LCCS5 · Syndrome des contractures congénitales létales type 5 |
| de | Fetale Akinesie-zerebrale und retinale Blutungen-Syndrom | LCCS5 · Syndrom der lethalen kongenitalen Kontrakturen Typ 5 |
| es | Síndrome de acinesia fetal-hemorragias cerebrales y retinianas | LCCS5 · Síndrome de contractura congénita letal tipo 5 |
| it | Sindrome acinesia fetale-emorragia cerebrale e retinica | |
| nl | Foetale akinesie - cerebrale en retinale hemorragie-syndroom | LCCS5 · Letale congenitale contracturen-syndroom type 5 |
| pt | Síndrome com acinésia fetal hemorragia cerebral e retiniana | |
| pl | Zespół akinezja płodu-krwotok do mózgu i siatkówki | = en |
| cs | Syndrom zahrnující fetální akinezi a krvácení do mozku a do sítnice | = en |
| uk | Синдром акінезії плода-крововиливів в мозок та сітківку | LCCS5 · Летальний синдром вродженої контрактури типу 5 |
| zh | 胎儿运动迟缓性脑和视网膜出血综合征 | 致死性先天挛缩综合征5型 |
| tr | Fetal akinezi-serebral ve retina hemoraji sendromu | LCCS5 · Letal doğumsal kontraktür sendromu tip 5 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615368 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0014149 | E | validated | |
| UMLS | C4706410 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:97245Congenital myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DNM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2974 | ENSG00000079805 | 602378 | 19p13.2 | dynamin 2 | 23092955[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 23092955[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363409
- This record as JSON: /data/d/363409.json